Early onset or syndromic epilepsy

Gene: ABAT

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR GABA-transaminase deficiency - neonatal or early infantile onset encephalopathy (Koenig 2017). Medina Kauwe et al, 1999 -described a secind unrelated patient and reviewed the patient reported by Jaeken et al (1984) - both had refractory seizures - mutations detected in the ABAT gene. Tsuji et al, 2010 - Japanese female born to non-consang parents - myoclonic jerks at 8 months - compound het mutation in ABAT. Nagappa et al, 2017 - child of non-consang parents - at 18 months having multifocal eleptiform discharges on EEG - compound het mutations detected. Koenig et al, 2017 - reviewed a series of 10 cases - all patients presented with neonatal/infantile-onset encephalopathy - one of these individuals 8 year old boy of Mexican descent - hom variant. No functional studies done.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GABA-transaminase deficiency, 613163

Publications

• 10407778
• 27903293

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)

Created: 16 Jul 2018, 3:18 p.m.

Green List (high evidence)

epilepsy is a part of the phenotype. enough evidence to mark the gene green

Created: 29 Jun 2018, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Gene added to mitochondrial/inherited white matters panel and analysed in EE patients with features of those disorders.

Created: 2 Sep 2016, 8:22 a.m.

Green List (high evidence)

Early-onset epileptic encephalopathy
Accelerated growth

Created: 6 Apr 2016, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GABA-transaminase deficiency

Publications

• Louro et al (2016) Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis 39(5):743-7